Portuguese Society of Human Genetics

C Pereira, M Ferreira, P Oliveira, F Carneiro… - 2020 - journals.lww.com
… Our data supports the hypothesis that E-cadherin transient … Intrauterine growth restriction
(IUGR) is a fetal growth … characterization of a cohort of late-onset Alzheimer's disease (LOAD) …

Disorders of Growth

DM Styne - Pediatric Endocrinology: A Clinical Handbook, 2023 - Springer
… is usually more accurate than using this paper technique … Psychosocial dwarfism is a
temporary state of hypopituitarism … must be monitored for the late onset of the serious additional …

[图书][B] The Monogenic Architecture of Retinal and Neurological Diseases

W Lee - 2023 - search.proquest.com
… like to show immense appreciation to members of both the … I’m not sure I would have
pulled through without both of you. … The resulting phenotype is a late-onset form of Stargardt …

Cystic diseases of the kidney

FR Oskoui, M Mrug, T Saigusa, DV Rizk - Emery and Rimoin's Principles …, 2023 - Elsevier
… This phenomenon is thought to be due to exposure to female … Polycystin-2 belongs to a
subfamily of transient receptor … risk of disease in relatives and late onset of cysts in some of them. …

Neurological Disease

J Wu, Y Zou, Y Xu, M Xie, Z Zheng, J Geng - Clinical Molecular Diagnostics, 2021 - Springer
… into early onset (EOAD) and late onset (LOAD). EOAD, which … 90 Gy using 3D conformal
technique was feasible, although … with a waddling gait, talipes equinus, calf pseudohypertrophy, …

Functional characterization of different epilepsy associated SCN2A and CACNA1E mutations

RJ Lauerer-Braun - 2022 - ub01.uni-tuebingen.de
… often include structural alterations like perinatal acquired hypoxic-… The technique offers
multiple possibilities to record the … Transient cell transfection was achieved using a lipopolyplex …

Epidemiology of central nervous system infections and of Zika virus in Bolivia

PM Saba Villarroel - 2020 - theses.fr
… plages de lyse (PRNT)), une technique laborieuse et difficile à réaliser dans les grandes …
abnormalities, clubfoot) in children born from pregnant women infected during pregnancy and …

[PDF][PDF] Epilepsies in children, young people and adults: diagnosis and management

N guideline NG217 - Methods, 2022 - ncbi.nlm.nih.gov
… ) • Time to first seizure in pregnancy up to 6 weeks and time … for both positive and negative
tests is the same in both arms … a reasonable representation of the phenomenon of interest (the …

[PDF][PDF] Systematic Analysis of Molecular and Cellular Dysfunction in Accelerated Aging Phenotypes

G Werner - 2021 - core.ac.uk
… the phenomenon to complete satisfaction (8). Generally, the theories can be divided into two
… This mechanism might explain the high prevalence of late-onset diseases like Huntington's …